[Study of patients with cleft lip and palate with consanguineous parents]

Braz J Otorhinolaryngol. 2011 Jan-Feb;77(1):19-23. doi: 10.1590/S1808-86942011000100004.
[Article in Portuguese]

Abstract

Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects.

Aim: To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors.

Series and Methods: A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records.

Results: Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy.

Conclusions: CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Brazil
  • Child
  • Cleft Lip / etiology
  • Cleft Lip / genetics*
  • Cleft Palate / etiology
  • Cleft Palate / genetics*
  • Consanguinity*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pregnancy
  • Prenatal Exposure Delayed Effects
  • Retrospective Studies
  • Risk Factors
  • Sex Factors
  • Smoking / adverse effects